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    TPGS1 tubulin polyglutamylase complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 91978, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TPGS1provided by HGNC
    Official Full Name
    tubulin polyglutamylase complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:25058
    See related
    Ensembl:ENSG00000141933 MIM:620709; AllianceGenome:HGNC:25058
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PGs1; C19orf20; GTRGEO22
    Summary
    Predicted to enable microtubule binding activity. Predicted to be involved in protein polyglutamylation. Predicted to act upstream of or within several processes, including adult behavior; chemical synaptic transmission; and sperm axoneme assembly. Located in centrosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in kidney (RPKM 5.9), fat (RPKM 4.3) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TPGS1 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (507497..519654)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (460069..472226)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (507497..519654)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CIMAP1 family member D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9600 Neighboring gene uncharacterized LOC124904608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:489477-489978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9602 Neighboring gene MADCAM1 antisense RNA 1 Neighboring gene mucosal vascular addressin cell adhesion molecule 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:506573-507430 Neighboring gene Sharpr-MPRA regulatory region 4509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:511078-511918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:511919-512760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:518458-519364 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:531801-532457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:534117-534693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:534694-535269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13563 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:535719-535880 Neighboring gene cell division cycle 34, ubiqiutin conjugating enzyme Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:543421-544066 Neighboring gene granzyme M

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Characterisation of PGs1, a subunit of a protein complex co-purifying with tubulin polyglutamylase. Regnard C, et al. J Cell Sci, 2003 Oct 15. PMID 12972506
    2. Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution. Dehal P, et al. Science, 2001 Jul 6. PMID 11441184
    3. The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics. O'Loughlin T, et al. EMBO Rep, 2018 Apr. PMID 29467281, Free PMC Article
    4. Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins. Dho SE, et al. Sci Rep, 2019 Aug 28. PMID 31462741, Free PMC Article
    5. Mapping the mammalian ribosome quality control complex interactome using proximity labeling approaches. Zuzow N, et al. Mol Biol Cell, 2018 May 15. PMID 29540532, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Isolation and functional characterization of the mouse PGs1 ortholog, and comparison to the human protein.
      Title: Characterisation of PGs1, a subunit of a protein complex co-purifying with tubulin polyglutamylase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tubulin-glutamic acid ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in adult behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein polyglutamylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm axoneme assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tubulin polyglutamylase complex subunit 1
    Names
    gene trap ROSA b-geo 22
    polyglutamylase subunit 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_033513.3 → NP_277048.2  tubulin polyglutamylase complex subunit 1

      See identical proteins and their annotated locations for NP_277048.2

      Status: VALIDATED

      Source sequence(s)
      BC009520, BM846833
      Consensus CDS
      CCDS42454.1
      UniProtKB/Swiss-Prot
      Q6ZTW0, Q96GE2
      Related
      ENSP00000352265.4, ENST00000359315.6
      Conserved Domains (1) summary
      cl02594
      Location:36 → 74
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      507497..519654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      460069..472226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZTW0.2 GenPept UniProtKB/Swiss-Prot:Q6ZTW0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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